An extra cysteine in one of the non calcium binding EGF-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome
We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms, some of which are found in classical MFS and some of which are typical of dominant ectopia lentis.
